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Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa
BACKGROUND: This study aimed to identify the gene variants and molecular etiologies in 76 unrelated Chinese families with retinitis pigmentosa (RP). METHODS: In total, 76 families with syndromic or nonsyndromic RP, diagnosed on the basis of clinical manifestations, were recruited for this study. Gen...
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| Publicat a: | Mol Genet Genomic Med |
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| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7057118/ https://ncbi.nlm.nih.gov/pubmed/31960602 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1131 |
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